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Rare Diseases at FDA

People with colored puzzle pieces in hands in a circle
People with colored puzzle pieces

What is a rare disease?

  • The Orphan Drug Act defines a rare disease as a disease or condition that affects less than 200,000 people in the United States. 
  • An estimated 10,000+ rare diseases affect more than 30 million people – approximately one out of every 10 people – in the U.S., and about half of these people are children.
  • The inherently small population of patients with a rare disease can also make conducting clinical trials difficult. 
  • Many rare diseases and conditions are life threatening, and most do not have approved treatments. 

What is an orphan drug? 

  • An orphan drug is a drug for a rare disease or condition. 
  • Some rare disease treatments have been “orphaned” or discontinued because there was not enough financial incentive to continue development or production. 
  • The Orphan Drug Act incentivizes drug development for rare diseases. 

How does the FDA encourage the development of medical products to diagnose and treat rare diseases?

  • Drug, biologic, and device development in rare diseases is challenging for many reasons, including the complex biology and the lack of understanding of the natural history of many rare diseases. 
  • The FDA works with many individuals and groups including patients, patient advocates, product developers, and researchers, to support the development of safe and effective drugs, biologics, and devices for rare diseases. The FDA:

Administers Laws and Regulations

Reviews and Grants Designations to Rare Disease Drugs, Rare Pediatric Diseases, and Devices 

Regulates Drugs and Devices

  • Protects the public health by ensuring the safety, efficacy, and security of drugs, biological products, and medical devices 

Gives Research Grants

  • Awards grants for research on rare diseases, including grants for clinical trials, natural history studies, and pediatric device consortium

Conducts Outreach

  • Communicates with professional organizations, patients, and rare disease advocacy groups about rare disease issues

What is the Orphan Drug Act?

  • The Orphan Drug Act is a law passed by Congress in 1983 that incentivizes the development of drugs to treat rare diseases. 
  • Companies and other drug developers can request orphan drug designation and FDA will grant such designation if the drug meets specific criteria.  Orphan designation qualifies sponsors for various incentives, including: 
    • Tax credits for qualified clinical (in humans) testing
    • Waiver of the Prescription Drug User Fee (currently at almost $3 million for a new drug)
    • Potential 7 years of market exclusivity after approval
  • The Orphan Drug Act established the Orphan Product Grants Program to provide funding for developing products for rare diseases or conditions.
  • Since the Orphan Drug Act was signed into law in 1983, the FDA has approved hundreds of drugs for rare diseases, but most rare diseases do not have FDA-approved treatments.  

How do the FDA medical product centers support rare disease product development?

The FDA Center for Drug Research and Evaluation (CDER), Center for Biologics Evaluation and Research (CBER), and Center for Device and Radiological Health (CDRH) all support the development and approval of safe and effective drugs, biologics, and devices to treat rare diseases. 

To address considerations in developing and approving medical products for rare diseases, the FDA centers:

  • Conduct specialized training for FDA staff on rare disease topics
  • Issue guidances for industry to encourage medical product development in rare diseases
  • Host and participate in patient-focused meetings and listening sessions on rare disease topics
  • Award research grants, cooperative agreements, and contracts in addition to conducting pilot programs and special data analyses to advance the regulatory science for rare diseases
  • Administer the expanded access or compassionate use program for investigational medical products in their specific area
  • Participate in FDA’s Rare Disease Council to discuss rare disease issues
  • Collaborate on FDA’s annual Rare Disease Day event

Learn more about:

Read more about CDRH’s Breakthrough Devices Program and the Humanitarian Use Device and Humanitarian Device Exemption programs.

What is the FDA Rare Disease Innovation Hub?

  • FDA created the Rare Disease Innovation Hub (the Hub) to serve as a point of collaboration and connectivity between Center for Biologics Evaluation and Research (CBER) and Center for Drug Evaluation and Research (CDER) with the goal of ultimately improving outcomes for patients.
  • The Hub is co-led by the directors of CBER and CDER, in close collaboration with the FDA’s Center for Devices and Radiological Health, Oncology Center of Excellence, Office of Orphan Products Development, and Office of Combination Products. 
  • On February 2, 2026, the FDA Rare Disease Innovation Hub released its Strategic Agenda, publicly communicating its goals and priorities for the upcoming year to the rare disease community. The Strategic Agenda reflects extensive input from and partnership with the larger rare disease community. Access the Strategic Agenda

Learn more about the FDA Rare Disease Innovation Hub

What does the FDA Office of Orphan Products Development do?

The FDA’s Office of Orphan Products Development: 

  • Coordinates FDA activities for rare diseases
  • Administers the orphan drug, rare pediatric disease, and humanitarian use device designation programs
  • Funds grants and cooperative agreements for rare disease research
  • Is a central point-of-contact for patients, caregivers, and advocacy groups who have questions about the FDA’s work in rare diseases 

Learn more about the FDA Office of Orphan Products Development

How can patients become involved in FDA’s work on rare diseases?

  • The FDA’s Public Engagement Staff partners with the National Organization for Rare Disorders (NORD) to host Patient Listening Sessions that focus on rare diseases. Patient Listening Sessions are one of many ways the patient community can share their experience with a disease or condition by talking directly with FDA staff.

Learn more about the FDA’s Patient Engagement work 

We encourage rare disease patients and caregivers to contact our Public Engagement Staff with any questions they might have about the FDA, treatments for their disease, and how they can participate in FDA processes. 

Patients or caregivers may also request a meeting by using the Patient Portal at www.fda.gov/PatientsAskFDA. 



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